Cargando…
The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis
Recessive mutations in the ubiquitously expressed POLR3A and POLR3B genes are the most common cause of POLR3-related hypomyelinating leukodystrophy (POLR3-HLD), a rare childhood-onset disorder characterized by deficient cerebral myelin formation and cerebellar atrophy. POLR3A and POLR3B encode the t...
Autores principales: | Choquet, Karine, Pinard, Maxime, Yang, Sharon, Moir, Robyn D., Poitras, Christian, Dicaire, Marie-Josée, Sgarioto, Nicolas, Larivière, Roxanne, Kleinman, Claudia L., Willis, Ian M., Gauthier, Marie-Soleil, Coulombe, Benoit, Brais, Bernard |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587292/ https://www.ncbi.nlm.nih.gov/pubmed/31221184 http://dx.doi.org/10.1186/s13041-019-0479-7 |
Ejemplares similares
-
Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation
por: Choquet, Karine, et al.
Publicado: (2017) -
Riluzole partially restores RNA polymerase III complex assembly in cells expressing the leukodystrophy-causative variant POLR3B R103H
por: Pinard, Maxime, et al.
Publicado: (2022) -
Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200
por: Choquet, Karine, et al.
Publicado: (2019) -
POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?
por: Coulombe, Benoit, et al.
Publicado: (2021) -
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
por: Thiffault, Isabelle, et al.
Publicado: (2015)